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SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia
OBJECTIVE: To describe the phenotype in 2 sisters with a rare constellation of neurologic symptoms and secretory impairments and to identify the etiology by the use of whole-genome sequencing (WGS). METHODS: After an extensive workup failed to reveal the cause of disease, in a girl with a previously...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357422/ https://www.ncbi.nlm.nih.gov/pubmed/32754646 http://dx.doi.org/10.1212/NXG.0000000000000478 |